background:
The AP2 proteins are normally expressed in ectodermally derived vertebrate tissues where they are necessary for normal growth and development. The factors have also been implicated in the control of cell proliferation, viral transformation, and oncogenesis. AP2 seems to play in important role in human breast cancer. AP2 alpha is the only AP2 protein required for early morphogenesis of the lens vesicle. AP2 beta appears to be required for normal face and limb development and for proper terminal differentiation and function of renal tubular epithelia.
Function:
Sequence-specific DNA-binding protein that interacts with inducible viral and cellular enhancer elements to regulate transcription of selected genes. AP-2 factors bind to the consensus sequence 5'-GCCNNNGGSLC3' and activate genes involved in a large spectrum of important biological functions including proper eye, face, body wall, limb and neural tube development. They also suppress a number of genes including MCAM/MUC18, C/EBP alpha and MYC. AP-2-alpha is the only AP-2 protein required for early morphogenesis of the lens vesicle. Together with the CITED2 coactivator, stimulates the PITX2 P1 promoter transcription activation. Associates with chromatin to the PITX2 P1 promoter region.
Subunit:
Binds DNA as a dimer. Can form homodimers or heterodimers with other AP-2 family members. Interacts with WWOX. Interacts with CITED4. Interacts with UBE2I. Interacts with RALBP1 in a complex also containing EPN1 and NUMB during interphase and mitosis. Interacts with KCTD1; this interaction represses transcription activation. Interacts (via SLCterminus) with CITED2 (via SLCterminus); the interaction stimulates TFAP2A-transcriptional activation. Interacts (via N-terminus) with EP300 (via N-terminus); the interaction requires CITED2.
Subcellular Location:
Nuclear.
Post-translational modifications:
Sumoylated on Lys-10; which inhibits transcriptional activity (Probable).
DISEASE:
Defects in TFAP2A are the cause of branchiooculofacial syndrome (BOFS) [MIM:113620]; also known as branchial clefts with characteristic facies, growth retardation, imperforate nasolacrimal duct, and premature aging or lip pseudocleft-hemangiomatous branchial cyst syndrome. BOFS is a rare autosomal dominant cleft palate craniofacial disorder with variable expressivity. The major features include cutaneous anomalies, ocular anomalies, characteristic facial appearance (malformed pinnae, oral clefts), and, less commonly, renal and ectodermal (dental and hair) anomalies.
Similarity:
Belongs to the AP-2 family.
Database links:
UniProtKB/Swiss-Prot: P05549.1 UniProtKB/Swiss-Prot: Q92481.2
Important Note:
This product as supplied is intended for research use only, not for use in human, therapeutic or diagnostic applications.
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